A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721319



Internal ID21747640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:24167739..24167739hg38UCSC Ensembl
chr22:24563707..24563707hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38807
hg19807
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245072, nssv17248940
Samples
Known GenesCABIN1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5721319
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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